rs104894484
|
1.000 |
0.120 |
15 |
68211793 |
missense variant |
C/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
7 |
2002 |
2012 |
rs758921701
|
1.000 |
0.120 |
15 |
68208180 |
missense variant |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2002 |
2012 |
rs764571295
|
1.000 |
0.120 |
15 |
68209640 |
missense variant |
T/C;G
|
snv
|
1.6E-05;
2.4E-05
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2002 |
2012 |
rs150363441
|
1.000 |
0.120 |
15 |
68208301 |
missense variant |
C/A;G;T
|
snv
|
2.4E-05
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2002 |
2012 |
rs1555438255
|
1.000 |
0.120 |
15 |
68208354 |
missense variant |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2002 |
2012 |
rs763944821
|
1.000 |
0.120 |
15 |
68229536 |
missense variant |
C/T
|
snv
|
8.2E-04
|
9.8E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2002 |
2012 |
rs121908080
|
0.925 |
0.120 |
15 |
68211698 |
inframe deletion |
ATG/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2002 |
2013 |
rs768422260
|
0.925 |
0.120 |
15 |
68208280 |
inframe deletion |
GAG/-
|
delins
|
|
1.4E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2003 |
2012 |
rs104894483
|
0.925 |
0.120 |
15 |
68214373 |
stop gained |
C/A;G;T
|
snv
|
6.8E-05;
2.6E-03;
2.0E-05;
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2002 |
2011 |
rs154774640
|
0.925 |
0.120 |
15 |
68218584 |
stop gained |
G/C
|
snv
|
8.0E-06
|
2.1E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2011 |
2015 |
rs104894483
|
0.925 |
0.120 |
15 |
68214373 |
stop gained |
C/A;G;T
|
snv
|
6.8E-05;
2.6E-03;
2.0E-05;
4.0E-06
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs154774633
|
0.925 |
0.120 |
15 |
68214387 |
missense variant |
A/G
|
snv
|
|
|
Adult Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs154774634
|
1.000 |
0.120 |
15 |
68211853 |
missense variant |
C/T
|
snv
|
1.6E-05
|
2.1E-05
|
Adult Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs154774635
|
1.000 |
0.120 |
15 |
68218595 |
missense variant |
G/A
|
snv
|
|
|
Adult Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs154774636
|
0.925 |
0.120 |
15 |
68229568 |
missense variant |
C/G
|
snv
|
|
|
Adult Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs154774638
|
1.000 |
0.120 |
15 |
68211715 |
missense variant |
C/T
|
snv
|
3.2E-05
|
2.8E-05
|
Adult Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs154774639
|
1.000 |
0.120 |
15 |
68208186 |
frameshift variant |
G/-
|
delins
|
|
1.4E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs154774641
|
1.000 |
0.120 |
15 |
68214356 |
missense variant |
G/C;T
|
snv
|
|
|
Adult Neuronal Ceroid Lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1555438212
|
1.000 |
0.120 |
15 |
68208239 |
stop gained |
C/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs1555438234
|
1.000 |
0.120 |
15 |
68208306 |
frameshift variant |
TGTCC/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs397515352
|
0.925 |
0.120 |
15 |
68211844 |
frameshift variant |
-/G
|
delins
|
2.4E-05;
2.8E-05
|
|
Abnormality of brain morphology
|
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs397515352
|
0.925 |
0.120 |
15 |
68211844 |
frameshift variant |
-/G
|
delins
|
2.4E-05;
2.8E-05
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs756522171
|
1.000 |
0.120 |
15 |
68211674 |
splice donor variant |
C/T
|
snv
|
1.2E-05
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs104894483
|
0.925 |
0.120 |
15 |
68214373 |
stop gained |
C/A;G;T
|
snv
|
6.8E-05;
2.6E-03;
2.0E-05;
4.0E-06
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894486
|
1.000 |
0.120 |
15 |
68209639 |
stop gained |
G/A;C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|